rs794726672
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs794726672(-;-) |
Make rs794726672(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 4 |
Position | 54728056 |
Gene | KIT |
is a | snp |
is | mentioned by |
dbSNP | rs794726672 |
dbSNP (classic) | rs794726672 |
ClinGen | rs794726672 |
ebi | rs794726672 |
HLI | rs794726672 |
Exac | rs794726672 |
Gnomad | rs794726672 |
Varsome | rs794726672 |
LitVar | rs794726672 |
Map | rs794726672 |
PheGenI | rs794726672 |
Biobank | rs794726672 |
1000 genomes | rs794726672 |
hgdp | rs794726672 |
ensembl | rs794726672 |
geneview | rs794726672 |
scholar | rs794726672 |
rs794726672 | |
pharmgkb | rs794726672 |
gwascentral | rs794726672 |
openSNP | rs794726672 |
23andMe | rs794726672 |
SNPshot | rs794726672 |
SNPdbe | rs794726672 |
MSV3d | rs794726672 |
GWAS Ctlg | rs794726672 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726672(-;-) |
Alt | rs794726672(-;-) |
Reference | Rs794726672(AA;AA) |
Significance | Pathogenic |
Disease | Partial albinism |
Variation | info |
Gene | KIT |
CLNDBN | Partial albinism |
Reversed | 0 |
HGVS | NC_000004.11:g.55594222_55594223delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000014859.22, |